(Q28201408)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11207361%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia (English)

1 reference

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4 November 2019

1 reference

1 reference

11

1 reference

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4 November 2019

Albert de la Chapelle

13

object named as

A de la Chapelle

1 reference

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4 November 2019

author name string

M Ridanpää

1

1 reference

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4 November 2019

H van Eenennaam

2

1 reference

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4 November 2019

K Pelin

3

1 reference

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4 November 2019

R Chadwick

4

1 reference

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4 November 2019

C Johnson

5

1 reference

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4 November 2019

B Yuan

6

1 reference

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4 November 2019

W vanVenrooij

7

1 reference

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4 November 2019

G Pruijn

8

1 reference

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4 November 2019

R Salmela

9

1 reference

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4 November 2019

S Rockas

10

1 reference

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4 November 2019

I Kaitila

12

1 reference

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4 November 2019

language of work or name

English

0 references

publication date

1 January 2001

1 reference

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4 November 2019

1 reference

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4 November 2019

volume

104

1 reference

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4 November 2019

issue

2

1 reference

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4 November 2019

page(s)

195-203

1 reference

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Characterization of the human talin (TLN) gene: genomic structure, chromosomal localization, and expression pattern

4 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Mutagenesis of SNM1, which encodes a protein component of the yeast RNase MRP, reveals a role for this ribonucleoprotein endoribonuclease in plasmid segregation

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Mouse RNAase MRP RNA is encoded by a nuclear gene and contains a decamer sequence complementary to a conserved region of mitochondrial RNA substrate.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

The RNA of RNase MRP is required for normal processing of ribosomal RNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

A nuclear function for RNase MRP.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Characterization of two scleroderma autoimmune antigens that copurify with human ribonuclease P

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

The RNA moiety of ribonuclease P is the catalytic subunit of the enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Ribonuclease P: a ribonucleoprotein enzyme

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Increased incidence of cancer in patients with cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Ellis-van Creveld syndrome and the Amish.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

The in vitro transcription of the 7SK RNA gene by RNA polymerase III is dependent only on the presence of an upstream promoter

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Survey and summary: transcription by RNA polymerases I and III.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

RNA-protein interactions in the human RNase MRP ribonucleoprotein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

The evolution of the RNase P- and RNase MRP-associated RNAs: phylogenetic analysis and nucleotide substitution rate

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Yeast site-specific ribonucleoprotein endoribonuclease MRP contains an RNA component homologous to mammalian RNase MRP RNA and essential for cell viability

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Secondary structure of RNase MRP RNA as predicted by phylogenetic comparison

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Genetic homogeneity of cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Function and synthesis of small nucleolar RNAs

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

hPop4: a new protein subunit of the human RNase MRP and RNase P ribonucleoprotein complexes

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Architecture and function of the human endonucleases RNase P and RNase MRP.

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Screening for autoantibodies to the nucleolar U3- and Th(7-2) ribonucleoproteins in patients' sera using antisense riboprobes

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

Cellular and humoral immmunity in cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

5' flanking sequences of human MRP/7-2 RNA gene are required and sufficient for the transcription by RNA polymerase III

1 reference

https://api.crossref.org/works/10.1016%2FS0092-8674%2801%2900205-7

7 January 2021

10.1016/S0092-8674(01)00205-7

Identifiers

DOI

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11207361%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017